A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590117



Internal ID6977446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26327100..26328600hg38UCSC Ensembl
Innerchr2:26327121..26328580hg38UCSC Ensembl
Outerchr2:26327080..26328621hg38UCSC Ensembl
chr2:26549968..26551468hg19UCSC Ensembl
Innerchr2:26549989..26551448hg19UCSC Ensembl
Outerchr2:26549948..26551489hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433782, essv10433790, essv10433785, essv10433784, essv10433780, essv10433789, essv10433788, essv10433786, essv10433781, essv10433783, essv10433787
SamplesHG02648, HG03015, HG03963, HG03792, HG03680, HG03009, HG04070, HG03750, HG03974, HG02684, HG04239
Known GenesGPR113
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590117
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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