A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593032



Internal ID6980356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155876893..155884593hg38UCSC Ensembl
Innerchr2:155876893..155884593hg38UCSC Ensembl
Outerchr2:155876722..155884750hg38UCSC Ensembl
chr2:156733405..156741105hg19UCSC Ensembl
Innerchr2:156733405..156741105hg19UCSC Ensembl
Outerchr2:156733234..156741262hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10721068, essv10721061, essv10721067, essv10721065, essv10721062, essv10721063, essv10721066, essv10721064
SamplesNA19466, HG03175, NA18504, NA19319, NA19372, NA19395, NA19308, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593032
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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