A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1002e201



Internal ID22760360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36710624..36710837hg38UCSC Ensembl
chr6:36678401..36678614hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2731926, esv2731924
SamplesSSM026, SSM019, SSM086, SSM095
Known GenesRAB44
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)dgv1002e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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