A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612536



Internal ID6999437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23100246..23104705hg38UCSC Ensembl
Innerchr7:23100248..23104703hg38UCSC Ensembl
Outerchr7:23100244..23104707hg38UCSC Ensembl
chr7:23139865..23144324hg19UCSC Ensembl
Innerchr7:23139867..23144322hg19UCSC Ensembl
Outerchr7:23139863..23144326hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384460
hg194460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12703782, essv12703825, essv12703793, essv12703784, essv12703828, essv12703756, essv12703775, essv12703744, essv12703818, essv12703773, essv12703778, essv12703807, essv12703752, essv12703804, essv12703786, essv12703823, essv12703779, essv12703742, essv12703762, essv12703817, essv12703753, essv12703820, essv12703745, essv12703809, essv12703796, essv12703824, essv12703769, essv12703777, essv12703802, essv12703821, essv12703746, essv12703751, essv12703748, essv12703803, essv12703772, essv12703761, essv12703819, essv12703816, essv12703760, essv12703771, essv12703790, essv12703827, essv12703781, essv12703791, essv12703768, essv12703826, essv12703822, essv12703815, essv12703755, essv12703754, essv12703776, essv12703813, essv12703758, essv12703814, essv12703829, essv12703764, essv12703785, essv12703812, essv12703808, essv12703805, essv12703765, essv12703770, essv12703783, essv12703750, essv12703757, essv12703798, essv12703794, essv12703800, essv12703749, essv12703789, essv12703767, essv12703774, essv12703806, essv12703795, essv12703801, essv12703788, essv12703780, essv12703797, essv12703766, essv12703763, essv12703799, essv12703811, essv12703747, essv12703787, essv12703759, essv12703792, essv12703743, essv12703810
SamplesNA19394, NA19701, HG03559, HG02890, HG02628, HG01462, NA19909, HG03052, HG03175, HG03247, HG02798, HG03130, HG02870, HG03280, NA20294, NA19819, NA20346, NA19443, NA18510, HG03095, HG03082, HG01325, HG03135, HG03499, HG02756, HG02854, HG02645, HG03105, NA19023, HG02281, NA18868, HG02634, NA20340, HG03195, NA19471, NA19159, NA19036, HG03267, HG03073, NA19025, HG03055, HG03369, HG02943, HG02442, HG03054, HG03088, HG02449, NA19455, NA19236, HG02322, HG03457, HG03081, HG02497, NA18907, HG03123, HG03382, HG02577, HG02884, HG02881, HG02283, NA19320, HG02594, NA19625, HG03567, NA19206, NA19309, HG02557, NA19108, NA19147, NA18517, HG03437, HG03539, NA19454, HG03458, NA18865, NA19310, HG02558, NA19475, HG03084, NA19323, HG02971, NA19438, HG03097, HG02768, HG03445, NA19316, NA19431, HG03196
Known GenesKLHL7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612536
Frequency
Sample Size2504
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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