A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594154



Internal ID6981474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210106057..210107330hg38UCSC Ensembl
Innerchr2:210106084..210107303hg38UCSC Ensembl
Outerchr2:210106030..210107357hg38UCSC Ensembl
chr2:210970781..210972054hg19UCSC Ensembl
Innerchr2:210970808..210972027hg19UCSC Ensembl
Outerchr2:210970754..210972081hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835420, essv10835422, essv10835429, essv10835427, essv10835419, essv10835418, essv10835421, essv10835428, essv10835424, essv10835426, essv10835423, essv10835425
SamplesHG02583, NA19399, HG02891, NA19377, NA19317, NA19026, NA19025, HG02813, HG01108, NA19376, NA19438, HG02861
Known GenesKANSL1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594154
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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