A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714683



Internal ID9948967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71950823..72151945hg38UCSC Ensembl
Outerchr16:71984722..72185844hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38201123
hg19201123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721271, essv6780015, essv6685579, essv6912029, essv6735546, essv6960253, essv6703052, essv6742742, essv6709970, essv6665609, essv6755980, essv6940956, essv6846395, essv6843047, essv6741549, essv6909446, essv6714421, essv6943584
SamplesSSM039, SSM002, SSM041, SSM058, SSM084, SSM029, SSM026, SSM003, SSM067, SSM044, SSM014, SSM006, SSM085, SSM007, SSM022, SSM034, SSM052, SSM049
Known GenesDHODH, DHX38, HP, HPR, PKD1L3, PMFBP1, TXNL4B
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)esv2714683
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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