A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738878



Internal ID9973219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104833854..104834818hg38UCSC Ensembl
Outerchr9:107596135..107597099hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834509, essv6939888, essv6763104, essv6819164, essv6815084, essv6884803, essv6802365, essv6716327, essv6923866, essv6681180, essv6698468, essv6768175, essv6806058, essv6809056, essv6701987, essv6768054, essv6870426, essv6856507, essv6743706, essv6879197, essv6705816, essv6734896, essv6749348, essv6691225, essv6735187, essv6900318, essv6795586, essv6695074, essv6887669, essv6787305, essv6895253, essv6720282
SamplesSSM022, SSM007, SSM053, SSM082, SSM036, SSM033, SSM040, SSM078, SSM043, SSM090, SSM064, SSM071, SSM039, SSM077, SSM062, SSM012, SSM093, SSM100, SSM056, SSM009, SSM095, SSM069, SSM037, SSM087, SSM038, SSM096, SSM044, SSM074, SSM075, SSM049, SSM008, SSM018
Known GenesABCA1
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)esv2738878
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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