A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920117



Internal ID6545410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41880415..41885091hg38UCSC Ensembl
Innerchr1:41880465..41885042hg38UCSC Ensembl
Outerchr1:41880366..41885141hg38UCSC Ensembl
chr1:42346086..42350762hg19UCSC Ensembl
Innerchr1:42346136..42350713hg19UCSC Ensembl
Outerchr1:42346037..42350812hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384677
hg194677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585834
Supporting Variants
SamplesHG03049
Known GenesHIVEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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