A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735311



Internal ID9969641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147575043..147575416hg38UCSC Ensembl
Outerchr7:147272135..147272508hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855793, essv6957637, essv6830538, essv6964335
SamplesSSM027, SSM087, SSM026, SSM081
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)esv2735311
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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