A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668854



Internal ID2670670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2707441..2709674hg38UCSC Ensembl
Innerchr7:2707441..2709674hg38UCSC Ensembl
Outerchr7:2707324..2709743hg38UCSC Ensembl
chr7:2747075..2749308hg19UCSC Ensembl
Innerchr7:2747075..2749308hg19UCSC Ensembl
Outerchr7:2746958..2749377hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382234
hg192234
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611851
Supporting Variants
SamplesHG01063
Known GenesAMZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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