A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715944



Internal ID10299580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41865333..41865813hg38UCSC Ensembl
Outerchr17:40021586..40022066hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415e201
Supporting Variantsessv6728978, essv6788483, essv6732840, essv6828382, essv6792572, essv6717505, essv6710053, essv6913310, essv6703168, essv6852283, essv6796750
SamplesSSM071, SSM046, SSM039, SSM041, SSM047, SSM069, SSM086, SSM015, SSM080, SSM070, SSM043
Known GenesKLHL11
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2715944
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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