A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12829705



Internal ID2831521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71493492..71494841hg38UCSC Ensembl
Innerchr7:71493492..71494841hg38UCSC Ensembl
Outerchr7:71493200..71494861hg38UCSC Ensembl
chr7:70958477..70959826hg19UCSC Ensembl
Innerchr7:70958477..70959826hg19UCSC Ensembl
Outerchr7:70958185..70959846hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613629
Supporting Variants
SamplesNA20819
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12829705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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