A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735320



Internal ID10318956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148365900..148366149hg38UCSC Ensembl
Outerchr7:148062992..148063241hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939413, essv6957638, essv6671692, essv6900011, essv6680753, essv6705392, essv6932040, essv6911698, essv6969798, essv6822795, essv6927160, essv6782590, essv6778590, essv6805761, essv6799269, essv6943871, essv6834138, essv6712206, essv6964337, essv6771185, essv6814677, essv6762872, essv6828732, essv6786805, essv6915399, essv6765250
SamplesSSM100, SSM027, SSM079, SSM065, SSM074, SSM042, SSM023, SSM028, SSM069, SSM062, SSM026, SSM019, SSM003, SSM031, SSM067, SSM033, SSM068, SSM040, SSM072, SSM082, SSM015, SSM016, SSM077, SSM022, SSM010, SSM063
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)esv2735320
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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