A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593904



Internal ID6634182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197276874..197278512hg38UCSC Ensembl
Innerchr2:197276903..197278483hg38UCSC Ensembl
Outerchr2:197276845..197278541hg38UCSC Ensembl
chr2:198141598..198143236hg19UCSC Ensembl
Innerchr2:198141627..198143207hg19UCSC Ensembl
Outerchr2:198141569..198143265hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815747, essv10815745, essv10815744, essv10815751, essv10815743, essv10815750, essv10815754, essv10815752, essv10815749, essv10815757, essv10815753, essv10815748, essv10815756, essv10815746, essv10815755
SamplesHG03163, NA19137, NA18861, NA20346, HG01956, HG03046, HG03485, NA18856, HG03391, HG02511, NA18910, HG01872, HG03367, HG02628, NA18881
Known GenesANKRD44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593904
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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