A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10293904



Internal ID3799243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216876885..216884144hg38UCSC Ensembl
Innerchr1:216876902..216884127hg38UCSC Ensembl
Outerchr1:216876868..216884161hg38UCSC Ensembl
chr1:217050227..217057486hg19UCSC Ensembl
Innerchr1:217050244..217057469hg19UCSC Ensembl
Outerchr1:217050210..217057503hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387260
hg197260
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588832
Supporting Variants
SamplesHG03445
Known GenesESRRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10293904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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