A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733592



Internal ID10317228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170236596..170238203hg38UCSC Ensembl
Outerchr6:170546386..170547291hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381608
hg19906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1057e201
Supporting Variantsessv6837605, essv6865788, essv6805574, essv6915212, essv6934920, essv6805575, essv6767671, essv6919018, essv6957312, essv6887144, essv6964018, essv6966261, essv6849386, essv6808561, essv6794837, essv6727284, essv6975099, essv6957313, essv6865786, essv6878733, essv6786580, essv6676746, essv6671385, essv6893677, essv6748880, essv6943627, essv6907750
SamplesSSM083, SSM071, SSM027, SSM075, SSM046, SSM064, SSM093, SSM074, SSM023, SSM021, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM032, SSM031, SSM001, SSM014, SSM086, SSM016, SSM098, SSM056
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)esv2733592
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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