A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590065



Internal ID6630352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24236299..24238605hg38UCSC Ensembl
Innerchr2:24236301..24238603hg38UCSC Ensembl
Outerchr2:24236297..24238607hg38UCSC Ensembl
chr2:24459168..24461474hg19UCSC Ensembl
Innerchr2:24459170..24461472hg19UCSC Ensembl
Outerchr2:24459166..24461476hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432601
SamplesHG02787
Known GenesITSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590065
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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