A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727079



Internal ID9961387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7766115..7766864hg38UCSC Ensembl
Outerchr4:7767842..7768591hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700426, essv6923041, essv6956096, essv6872289, essv6892970, essv6798252, essv6968747, essv6956026, essv6910780, essv6785803, essv6829669, essv6942681, essv6922525, essv6770273, essv6767081, essv6674432, essv6704486, essv6707902, essv6878183, essv6875259, essv6726560, essv6889641, essv6883791, essv6825773, essv6836882, essv6813817, essv6790654, essv6869263, essv6896357, essv6667250, essv6883131, essv6755242, essv6906870, essv6781650, essv6711305, essv6679887, essv6821883, essv6683449, essv6848205
SamplesSSM008, SSM083, SSM046, SSM064, SSM079, SSM065, SSM097, SSM039, SSM009, SSM093, SSM042, SSM041, SSM023, SSM028, SSM092, SSM090, SSM018, SSM069, SSM026, SSM003, SSM014, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM015, SSM005, SSM080, SSM077, SSM091, SSM095, SSM034, SSM004, SSM099, SSM098, SSM030, SSM012
Known GenesAFAP1, AFAP1-AS1
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)esv2727079
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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