A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640472



Internal ID7027247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36483375..36567136hg38UCSC Ensembl
chr17:34839220..34922975hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3883762
hg1983756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666437, essv15666438, essv15666443, essv15666441, essv15666444, essv15666434, essv15666439, essv15666440, essv15666442, essv15666435, essv15666436
SamplesHG01986, NA20359, NA20287, HG02144, HG02508, HG03472, HG02283, HG01990, HG02308, NA20362, HG03439
Known GenesGGNBP2, MYO19, PIGW, ZNHIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640472
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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