A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746501



Internal ID10327471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122853214..122853518hg38UCSC Ensembl
Outerchr12:123337761..123338065hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857324, essv6939695, essv6688359, essv6977336, essv6819790, essv6779530, essv6894716, essv6867259, essv6888050, essv6812283, essv6673260, essv6755631, essv6735255, essv6827785, essv6965893, essv6900697, essv6727931, essv6838679, essv6891349, essv6851317, essv6685148, essv6916193, essv6752633, essv6720763, essv6702529, essv6873740, essv6772886, essv6709567, essv6698806, essv6945036, essv6908958, essv6870782, essv6909163, essv6931919, essv6959380
SamplesSSM100, SSM008, SSM083, SSM027, SSM087, SSM038, SSM097, SSM039, SSM002, SSM041, SSM057, SSM023, SSM058, SSM090, SSM029, SSM096, SSM026, SSM089, SSM035, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM020, SSM078, SSM016, SSM080, SSM076, SSM091, SSM034, SSM098, SSM049
Known GenesHIP1R
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)esv2746501
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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