A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12979511



Internal ID6809083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137107675..137137455hg38UCSC Ensembl
Innerchr7:137107716..137137415hg38UCSC Ensembl
Outerchr7:137107635..137137496hg38UCSC Ensembl
chr7:136792422..136822202hg19UCSC Ensembl
Innerchr7:136792463..136822162hg19UCSC Ensembl
Outerchr7:136792382..136822243hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3829781
hg1929781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615162
Supporting Variants
SamplesNA20894
Known GenesLOC349160
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12979511
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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