A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615053



Internal ID7001942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132018178..132020094hg38UCSC Ensembl
Innerchr7:132018178..132020094hg38UCSC Ensembl
Outerchr7:132017873..132020480hg38UCSC Ensembl
chr7:131702937..131704853hg19UCSC Ensembl
Innerchr7:131702937..131704853hg19UCSC Ensembl
Outerchr7:131702632..131705239hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12972749, essv12972757, essv12972769, essv12972766, essv12972742, essv12972772, essv12972762, essv12972763, essv12972761, essv12972779, essv12972750, essv12972744, essv12972740, essv12972759, essv12972753, essv12972751, essv12972743, essv12972755, essv12972758, essv12972741, essv12972756, essv12972760, essv12972771, essv12972770, essv12972745, essv12972746, essv12972752, essv12972777, essv12972776, essv12972767, essv12972748, essv12972778, essv12972773, essv12972768, essv12972765, essv12972738, essv12972747, essv12972774, essv12972775, essv12972754, essv12972739, essv12972764
SamplesHG00626, NA18947, HG01052, HG02375, NA18979, NA18641, HG02040, HG02154, NA18633, NA18962, NA18595, HG02087, NA18619, NA18618, HG00867, NA18977, HG02082, HG02178, NA19007, HG02402, HG00560, NA18538, NA19006, HG01857, NA18956, HG00556, HG00533, HG03871, HG00479, HG00864, NA18608, HG00407, NA19090, NA18992, NA19085, HG02128, NA18636, NA19080, NA18972, NA18612, HG00437, NA18620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615053
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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