A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735237



Internal ID9969567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140035659..140036384hg38UCSC Ensembl
Outerchr7:139735459..139736184hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845243, essv6671673, essv6814652, essv6727476, essv6876009, essv6731342, essv6957612, essv6878878, essv6763964, essv6904056, essv6855769, essv6890855
SamplesSSM008, SSM046, SSM087, SSM013, SSM093, SSM092, SSM026, SSM031, SSM085, SSM007, SSM077, SSM012
Known GenesPARP12
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)esv2735237
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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