A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590188



Internal ID6977517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29699520..29715075hg38UCSC Ensembl
Innerchr2:29700020..29714575hg38UCSC Ensembl
Outerchr2:29698520..29716075hg38UCSC Ensembl
chr2:29922386..29937941hg19UCSC Ensembl
Innerchr2:29922886..29937441hg19UCSC Ensembl
Outerchr2:29921386..29938941hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3815556
hg1915556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv682e214
Supporting Variantsessv10439004
SamplesHG03653
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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