A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591664



Internal ID6978992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95064869..95071435hg38UCSC Ensembl
Innerchr2:95064869..95071435hg38UCSC Ensembl
Outerchr2:95064619..95071494hg38UCSC Ensembl
chr2:95730614..95737180hg19UCSC Ensembl
Innerchr2:95730614..95737180hg19UCSC Ensembl
Outerchr2:95730364..95737239hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386567
hg196567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587636, essv10587616, essv10587623, essv10587621, essv10587618, essv10587602, essv10587606, essv10587595, essv10587603, essv10587634, essv10587597, essv10587599, essv10587593, essv10587628, essv10587604, essv10587611, essv10587598, essv10587627, essv10587630, essv10587619, essv10587629, essv10587596, essv10587614, essv10587615, essv10587609, essv10587624, essv10587608, essv10587610, essv10587625, essv10587600, essv10587631, essv10587635, essv10587605, essv10587620, essv10587601, essv10587613, essv10587612, essv10587622, essv10587633, essv10587607, essv10587626, essv10587594, essv10587617, essv10587632
SamplesHG02122, HG02360, HG00729, HG02382, HG02040, NA18526, HG01853, HG00458, NA18547, HG02266, HG01843, HG01848, NA18964, HG00537, HG00867, HG02187, HG02138, HG01797, HG02345, NA19086, HG01938, NA18566, HG00651, NA19000, HG01870, HG00684, HG01865, HG02408, HG01596, HG00407, NA18535, HG01874, NA18610, HG02181, HG01801, NA18987, HG00595, HG02425, HG00628, NA18968, NA18549, HG01805, HG00978, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591664
Frequency
Sample Size2504
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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