A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640471



Internal ID7027246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36461662..36600489hg38UCSC Ensembl
Innerchr17:36461812..36600339hg38UCSC Ensembl
Outerchr17:36461512..36600639hg38UCSC Ensembl
chr17:34817476..34956918hg19UCSC Ensembl
Innerchr17:34817626..34956768hg19UCSC Ensembl
Outerchr17:34817326..34957068hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38138828
hg19139443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666425, essv15666429, essv15666426, essv15666422, essv15666432, essv15666423, essv15666427, essv15666424, essv15666430, essv15666433, essv15666428, essv15666431
SamplesHG01986, NA20359, NA20287, NA19707, HG02144, HG02508, HG03472, HG02283, HG01990, HG02308, NA20362, HG03439
Known GenesDHRS11, GGNBP2, MYO19, PIGW, ZNHIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640471
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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