A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744452



Internal ID9978736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16540618..16677119hg38UCSC Ensembl
Outerchr1:16867113..17003614hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38136502
hg19136502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10e201
Supporting Variantsessv6669243, essv6679169, essv6773439, essv6950556, essv6941785, essv6925690, essv6750602, essv6787486, essv6682829, essv6729621, essv6839971, essv6696990, essv6883256, essv6784621, essv6747781, essv6780873
SamplesSSM038, SSM009, SSM057, SSM023, SSM084, SSM047, SSM019, SSM001, SSM033, SSM066, SSM068, SSM005, SSM095, SSM025, SSM034, SSM056
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
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)esv2744452
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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