A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593038



Internal ID6633318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156544329..156544700hg38UCSC Ensembl
Innerchr2:156544329..156544700hg38UCSC Ensembl
Outerchr2:156544002..156545008hg38UCSC Ensembl
chr2:157400841..157401212hg19UCSC Ensembl
Innerchr2:157400841..157401212hg19UCSC Ensembl
Outerchr2:157400514..157401520hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10722843, essv10722839, essv10722838, essv10722840, essv10722841, essv10722842, essv10722845, essv10722844
SamplesNA12827, HG00537, NA20533, NA20875, HG04194, HG03823, HG04134, HG01791
Known GenesGPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593038
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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