A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722545



Internal ID5724361
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641003
Supporting Variants
SamplesHG02014
Known GenesMAP3K3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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