A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12864872



Internal ID2866688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81712154..81714487hg38UCSC Ensembl
Innerchr7:81712178..81714463hg38UCSC Ensembl
Outerchr7:81712130..81714511hg38UCSC Ensembl
chr7:81341470..81343803hg19UCSC Ensembl
Innerchr7:81341494..81343779hg19UCSC Ensembl
Outerchr7:81341446..81343827hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg382334
hg192334
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613890
Supporting Variants
SamplesNA19072
Known GenesHGF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12864872
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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