A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993616



Internal ID3657230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44598948..44602666hg38UCSC Ensembl
Innerchr3:44599098..44602516hg38UCSC Ensembl
Outerchr3:44598798..44602816hg38UCSC Ensembl
chr3:44640440..44644158hg19UCSC Ensembl
Innerchr3:44640590..44644008hg19UCSC Ensembl
Outerchr3:44640290..44644308hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383719
hg193719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596036
Supporting Variants
SamplesHG03258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993616
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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