A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677377



Internal ID9596796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134231535..134231671hg38UCSC Ensembl
chr7:133916287..133916423hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6524447, essv5625506, essv5479807, essv6067611, essv6572632, essv5855137, essv5708185, essv5899770, essv5470356, essv6046000, essv6157329, essv6260239, essv6128293, essv6144738, essv5900052, essv5487015, essv6058784, essv5656380, essv6159554, essv5992066, essv5995378, essv5702637, essv6582290, essv6583301, essv6557049, essv5466891, essv5692949, essv5490573, essv6207914, essv5428241, essv6369185, essv5574649, essv6188505, essv5694399, essv5591145, essv6218214, essv5795142, essv6010142, essv5635875, essv6060159, essv5525297, essv5993560, essv6317598, essv5754855
SamplesNA18870, NA18534, NA18530, HG00418, HG00500, NA19093, HG00707, NA18545, HG00542, NA19379, HG00698, HG00543, HG01107, HG00339, NA18624, NA18566, NA18536, HG00689, NA19397, NA18638, HG00533, HG00419, NA18637, HG00284, NA18620, NA19372, NA18633, NA18486, HG00513, HG00524, NA18562, NA18579, HG00589, HG00427, HG00443, NA19391, HG00608, NA18577, HG00656, HG00442, HG00473, HG00684, HG00702, NA19385
Known GenesLRGUK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677377
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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