A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733015



Internal ID9967337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158811118..158811719hg38UCSC Ensembl
Outerchr6:159232150..159232751hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705151, essv6849324, essv6680509, essv6957217, essv6671308, essv6975004, essv6687361, essv6690589, essv6830297, essv6923190, essv6740099, essv6701229, essv6943572, essv6939144
SamplesSSM036, SSM039, SSM023, SSM018, SSM029, SSM026, SSM035, SSM031, SSM086, SSM033, SSM081, SSM040, SSM022, SSM052
Known GenesEZR
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)esv2733015
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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