A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715932



Internal ID9950219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41422476..41439019hg38UCSC Ensembl
Outerchr17:39578728..39595271hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816544
hg1916544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971565, essv6858256, essv6738363, essv6784298, essv6901938, essv6809895, essv6696290, essv6944495, essv6882814, essv6891827, essv6879969, essv6945735, essv6772772, essv6721360, essv6831969, essv6753038, essv6976818, essv6806884, essv6839564, essv6792570, essv6877191, essv6732839, essv6715065, essv6788482, essv6941086, essv6953987, essv6761446, essv6966920, essv6758669, essv6713606, essv6800970, essv6780138, essv6703167, essv6843175, essv6925000, essv6776349
SamplesSSM059, SSM027, SSM075, SSM065, SSM087, SSM097, SSM039, SSM093, SSM050, SSM074, SSM042, SSM057, SSM023, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM094, SSM003, SSM067, SSM044, SSM066, SSM006, SSM068, SSM081, SSM072, SSM037, SSM022, SSM010, SSM070, SSM025, SSM004, SSM012
Known GenesKRT37, KRT38
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)esv2715932
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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