A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589752



Internal ID6977082
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10404078, essv10404077, essv10404079
SamplesNA19379, NA19461, NA19310
Known GenesLINC00299
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589752
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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