A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641003



Internal ID6681088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63671994..63674443hg38UCSC Ensembl
Innerchr17:63671994..63674443hg38UCSC Ensembl
Outerchr17:63671889..63674670hg38UCSC Ensembl
chr17:61749354..61751803hg19UCSC Ensembl
Innerchr17:61749354..61751803hg19UCSC Ensembl
Outerchr17:61749249..61752030hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg382450
hg192450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15722549, essv15722552, essv15722548, essv15722551, essv15722546, essv15722550, essv15722547, essv15722545
SamplesNA19314, HG02642, HG02014, NA19318, HG02807, NA19454, NA19468, HG03445
Known GenesMAP3K3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641003
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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