A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715921



Internal ID10299557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41183932..41184919hg38UCSC Ensembl
Outerchr17:39340184..39341171hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828380, essv6905553, essv6703164, essv6846473, essv6852277, essv6792568, essv6778055, essv6717502, essv6682223, essv6936933, essv6772770, essv6932620, essv6668551, essv6665824, essv6920942, essv6776347, essv6871226, essv6916777, essv6692171, essv6877188, essv6788480, essv6780135, essv6806882, essv6953986, essv6843173, essv6928510, essv6966917, essv6960432, essv6895261, essv6725172, essv6924998, essv6696288, essv6858251, essv6944484
SamplesSSM036, SSM008, SSM027, SSM045, SSM065, SSM087, SSM039, SSM013, SSM074, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM003, SSM067, SSM086, SSM033, SSM066, SSM085, SSM020, SSM016, SSM080, SSM037, SSM070, SSM025, SSM043, SSM098, SSM030
Known GenesKRTAP4-1
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)esv2715921
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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