A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640486



Internal ID7027261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37157610..37159300hg38UCSC Ensembl
Innerchr17:37157660..37159250hg38UCSC Ensembl
Outerchr17:37157560..37159350hg38UCSC Ensembl
chr17:35514524..35516214hg19UCSC Ensembl
Innerchr17:35514574..35516164hg19UCSC Ensembl
Outerchr17:35514474..35516264hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381691
hg191691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666702, essv15666705, essv15666701, essv15666703, essv15666704, essv15666706, essv15666700
SamplesHG01488, NA19437, HG01879, NA18909, NA19037, NA18876, HG02343
Known GenesACACA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640486
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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