A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738017



Internal ID10321653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68308461..68310890hg38UCSC Ensembl
Outerchr10:70068218..70070647hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795725, essv6799903, essv6803275, essv6749461, essv6685321, essv6702820, essv6927685, essv6924025, essv6743806, essv6720399, essv6791540, essv6906640, essv6731818, essv6919847, essv6894397, essv6803421, essv6812003, essv6948763, essv6709256, essv6866769, essv6769187, essv6668058
SamplesSSM008, SSM071, SSM024, SSM009, SSM073, SSM002, SSM041, SSM047, SSM018, SSM089, SSM017, SSM019, SSM044, SSM001, SSM072, SSM053, SSM005, SSM076, SSM070, SSM098, SSM056, SSM030
Known GenesPBLD
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)esv2738017
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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