A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612845



Internal ID6653057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37177232..37177671hg38UCSC Ensembl
Innerchr7:37177232..37177671hg38UCSC Ensembl
Outerchr7:37176985..37177917hg38UCSC Ensembl
chr7:37216837..37217276hg19UCSC Ensembl
Innerchr7:37216837..37217276hg19UCSC Ensembl
Outerchr7:37216590..37217522hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12738485, essv12738484, essv12738482, essv12738480, essv12738481, essv12738483
SamplesHG02140, NA18621, NA18530, HG00628, NA18567, NA18555
Known GenesELMO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612845
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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