A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12910239



Internal ID1357234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101415872..101416986hg38UCSC Ensembl
Innerchr7:101415873..101416986hg38UCSC Ensembl
Outerchr7:101415872..101416987hg38UCSC Ensembl
chr7:101059153..101060267hg19UCSC Ensembl
Innerchr7:101059154..101060267hg19UCSC Ensembl
Outerchr7:101059153..101060268hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614334
Supporting Variants
SamplesHG01197
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12910239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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