A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641253



Internal ID6681338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75061542..75067186hg38UCSC Ensembl
chr17:73057637..73063281hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385645
hg195645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740499, essv15740500, essv15740498
SamplesHG01378, HG02095, HG01474
Known GenesKCTD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641253
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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