A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404077



Internal ID5887166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8251554..8253545hg38UCSC Ensembl
Innerchr2:8251557..8253543hg38UCSC Ensembl
Outerchr2:8251552..8253548hg38UCSC Ensembl
chr2:8391684..8393675hg19UCSC Ensembl
Innerchr2:8391687..8393673hg19UCSC Ensembl
Outerchr2:8391682..8393678hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381992
hg191992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589752
Supporting Variants
SamplesNA19310
Known GenesLINC00299
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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