A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12889031



Internal ID2321949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91639324..91644218hg38UCSC Ensembl
Innerchr7:91639324..91644218hg38UCSC Ensembl
Outerchr7:91638824..91644718hg38UCSC Ensembl
chr7:91268639..91273533hg19UCSC Ensembl
Innerchr7:91268639..91273533hg19UCSC Ensembl
Outerchr7:91268139..91274033hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg384895
hg194895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614126
Supporting Variants
SamplesHG02069
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12889031
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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