A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9972557



Internal ID5435292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73180438..73185045hg38UCSC Ensembl
Innerchr1:73180938..73184545hg38UCSC Ensembl
Outerchr1:73179438..73186045hg38UCSC Ensembl
chr1:73646121..73650728hg19UCSC Ensembl
Innerchr1:73646621..73650228hg19UCSC Ensembl
Outerchr1:73645121..73651728hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384608
hg194608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586430
Supporting Variants
SamplesNA18959
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9972557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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