A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12897723



Internal ID2899539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93919741..93922994hg38UCSC Ensembl
Innerchr7:93919741..93922994hg38UCSC Ensembl
Outerchr7:93919241..93923494hg38UCSC Ensembl
chr7:93549053..93552306hg19UCSC Ensembl
Innerchr7:93549053..93552306hg19UCSC Ensembl
Outerchr7:93548553..93552806hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614175
Supporting Variants
SamplesNA21110
Known GenesGNG11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12897723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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