A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733410



Internal ID10317046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168742770..168743151hg38UCSC Ensembl
Outerchr6:169142866..169143247hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731025, essv6762736, essv6705172, essv6833919, essv6957276, essv6934897, essv6943610, essv6865772, essv6869897, essv6786551, essv6723385, essv6818419, essv6837588, essv6965817, essv6903866, essv6975064, essv6727270, essv6887134, essv6737092, essv6939187, essv6889310, essv6947964, essv6767658, essv6855456, essv6881538, essv6715691, essv6790670, essv6760172, essv6680540
SamplesSSM083, SSM024, SSM045, SSM046, SSM064, SSM087, SSM013, SSM050, SSM023, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM094, SSM001, SSM033, SSM040, SSM082, SSM078, SSM022, SSM070, SSM043, SSM012
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)esv2733410
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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