A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735618



Internal ID10319254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156133453..156133632hg38UCSC Ensembl
Outerchr7:155926147..155926326hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881738, essv6845301, essv6948237, essv6811647, essv6923469, essv6698185, essv6708786, essv6684360, essv6687607, essv6701528, essv6705423, essv6861374, essv6808749, essv6790945, essv6930887, essv6805780, essv6943904, essv6858809
SamplesSSM024, SSM075, SSM011, SSM038, SSM039, SSM074, SSM088, SSM041, SSM023, SSM018, SSM035, SSM094, SSM085, SSM040, SSM020, SSM076, SSM070, SSM034
Known Genes
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)esv2735618
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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