A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590587



Internal ID6630873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45498125..45509335hg38UCSC Ensembl
Innerchr2:45498177..45509283hg38UCSC Ensembl
Outerchr2:45498073..45509387hg38UCSC Ensembl
chr2:45725264..45736474hg19UCSC Ensembl
Innerchr2:45725316..45736422hg19UCSC Ensembl
Outerchr2:45725212..45736526hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811211
hg1911211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486638, essv10486639, essv10486636, essv10486637, essv10486640
SamplesHG03642, HG04094, NA21127, HG00108, HG03998
Known GenesSRBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590587
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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