A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732354



Internal ID10315990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:81856902..81857797hg38UCSC Ensembl
Outerchr6:82566619..82567514hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837479, essv6754597, essv6680450, essv6930498, essv6926864, essv6679221, essv6951963, essv6907625, essv6715589, essv6761487, essv6974864, essv6730935, essv6826458, essv6748794, essv6822492, essv6778252, essv6918888, essv6903772, essv6855306, essv6849208, essv6833835, essv6694208, essv6957083, essv6684034, essv6770879, essv6929152, essv6796098, essv6875783, essv6943497, essv6794704, essv6701137, essv6723286, essv6888421, essv6830223, essv6745980, essv6782271, essv6711897, essv6786456, essv6774639, essv6969430, essv6961751, essv6690518, essv6790568, essv6671179, essv6740018, essv6767592
SamplesSSM036, SSM008, SSM083, SSM071, SSM045, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM042, SSM023, SSM058, SSM028, SSM092, SSM047, SSM069, SSM029, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM082, SSM020, SSM005, SSM080, SSM037, SSM055, SSM070, SSM025, SSM034, SSM004, SSM043, SSM052, SSM056, 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)esv2732354
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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