A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590063



Internal ID6977391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24173812..24176811hg38UCSC Ensembl
Innerchr2:24173812..24176811hg38UCSC Ensembl
Outerchr2:24173312..24177311hg38UCSC Ensembl
chr2:24396681..24399680hg19UCSC Ensembl
Innerchr2:24396681..24399680hg19UCSC Ensembl
Outerchr2:24396181..24400180hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432581, essv10432585, essv10432587, essv10432584, essv10432589, essv10432578, essv10432582, essv10432579, essv10432580, essv10432590, essv10432588, essv10432583, essv10432586
SamplesHG00235, HG02318, NA19734, NA20298, NA19443, NA18962, NA19923, HG01628, NA19036, NA20412, NA19445, HG01272, NA19117
Known GenesFAM228A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590063
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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