A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735324



Internal ID10318960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148414270..148415005hg38UCSC Ensembl
Outerchr7:148111362..148112097hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841608, essv6712208, essv6964338, essv6975460, essv6952298, essv6774920, essv6690812, essv6687585, essv6764209, essv6790911, essv6939415, essv6923444, essv6799271, essv6849739, essv6919270, essv6694616
SamplesSSM036, SSM008, SSM027, SSM042, SSM084, SSM018, SSM029, SSM017, SSM035, SSM086, SSM066, SSM072, SSM037, SSM022, SSM070, SSM025
Known GenesCNTNAP2
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)esv2735324
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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