A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861314



Internal ID9912320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138060002..140415947hg38UCSC Ensembl
Outerchr7:137744748..140115747hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382355946
hg192371000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212
Supporting Variants
SamplesSSM088
Known GenesAKR1D1, ATP6V0A4, C7orf55, C7orf55-LUC7L2, CLEC2L, HIPK2, JHDM1D-AS1, KDM7A, KIAA1549, KLRG2, LOC100129148, LUC7L2, MIR4468, PARP12, RAB19, SLC37A3, SVOPL, TBXAS1, TMEM213, TRIM24, TTC26, UBN2, ZC3HAV1, ZC3HAV1L
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)essv6861314
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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