A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11140886



Internal ID2357325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128858577..128867894hg38UCSC Ensembl
Innerchr3:128858584..128867887hg38UCSC Ensembl
Outerchr3:128858570..128867901hg38UCSC Ensembl
chr3:128577420..128586737hg19UCSC Ensembl
Innerchr3:128577427..128586730hg19UCSC Ensembl
Outerchr3:128577413..128586744hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg389318
hg199318
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597727
Supporting Variants
SamplesHG02087
Known GenesLOC653712
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11140886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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