A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640942



Internal ID6681027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61041388..61051427hg38UCSC Ensembl
Innerchr17:61041388..61051427hg38UCSC Ensembl
Outerchr17:61041170..61051684hg38UCSC Ensembl
chr17:59118749..59128788hg19UCSC Ensembl
Innerchr17:59118749..59128788hg19UCSC Ensembl
Outerchr17:59118531..59129045hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810040
hg1910040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716447, essv15716453, essv15716465, essv15716454, essv15716469, essv15716470, essv15716451, essv15716450, essv15716448, essv15716461, essv15716466, essv15716446, essv15716456, essv15716449, essv15716458, essv15716462, essv15716457, essv15716467, essv15716463, essv15716452, essv15716460, essv15716455, essv15716464, essv15716459, essv15716468
SamplesHG00112, HG01506, NA20775, HG02648, HG00368, HG01605, HG02231, NA20798, HG01468, HG04194, NA07048, HG00258, NA11894, NA20773, HG00325, HG01121, HG01257, HG01494, NA20766, NA20581, NA20534, HG04035, HG04177, HG01489, HG01789
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640942
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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