A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731717



Internal ID10315353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24878883..24879216hg38UCSC Ensembl
Outerchr6:24879111..24879444hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869617, essv6927485, essv6875635, essv6719335, essv6938912, essv6956898, essv6825354, essv6943283, essv6808327, essv6974674, essv6767452, essv6896719, essv6830115, essv6730800, essv6794583, essv6790436, essv6911249, essv6786315, essv6841179, essv6837355, essv6930378, essv6849025
SamplesSSM083, SSM071, SSM075, SSM064, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM029, SSM026, SSM003, SSM044, SSM086, SSM081, SSM020, SSM015, SSM022, SSM010, SSM070, SSM099
Known GenesFAM65B
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)esv2731717
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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