A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10416080



Internal ID5329802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15144877..15147919hg38UCSC Ensembl
Innerchr2:15144881..15147915hg38UCSC Ensembl
Outerchr2:15144873..15147923hg38UCSC Ensembl
chr2:15285001..15288043hg19UCSC Ensembl
Innerchr2:15285005..15288039hg19UCSC Ensembl
Outerchr2:15284997..15288047hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383043
hg193043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589907
Supporting Variants
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10416080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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