A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1099e201



Internal ID20125986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:63745425..65844276hg38UCSC Ensembl
chr7:63205803..65309263hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382098852
hg192103461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2734568, esv2734570
SamplesSSM046, SSM079, SSM087, SSM088, SSM028, SSM026, SSM089, SSM031, SSM086, SSM078
Known GenesCCT6P1, CCT6P3, ERV3-1, INTS4L2, LINC01005, LOC100128885, LOC441242, LOC641746, MIR6839, SNORA22, YWHAEP1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF679, ZNF680, ZNF727, ZNF735, ZNF736, ZNF92
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)dgv1099e201
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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