A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641254



Internal ID6681339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75065090..75065665hg38UCSC Ensembl
Innerchr17:75065093..75065662hg38UCSC Ensembl
Outerchr17:75065087..75065668hg38UCSC Ensembl
chr17:73061185..73061760hg19UCSC Ensembl
Innerchr17:73061188..73061757hg19UCSC Ensembl
Outerchr17:73061182..73061763hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740503, essv15740501, essv15740504, essv15740505, essv15740502
SamplesHG03241, HG02798, HG02675, HG02807, HG03470
Known GenesKCTD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641254
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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