A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727825



Internal ID9962137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73446173..73447001hg38UCSC Ensembl
Outerchr4:74311890..74312718hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938513, essv6785922, essv6724976, essv6860216, essv6942813, essv6754140, essv6736601, essv6693688, essv6872367, essv6683560, essv6833358, essv6805058, essv6840802, essv6962899, essv6844548, essv6802222, essv6810927, essv6825894, essv6745559, essv6777716, essv6899294, essv6770346, essv6690014, essv6929983, essv6813908, essv6781747, essv6715056, essv6704575, essv6926413, essv6711408, essv6854491, essv6718935, essv6896435, essv6883857, essv6951431, essv6910871, essv6822521, essv6848346, essv6922618, essv6679978, essv6670325, essv6875332, essv6748382, essv6878254, essv6790031, essv6707992, essv6956896, essv6726663, essv6883864, essv6973902, essv6934188, essv6756076, essv6947352, essv6794182, essv6700517, essv6759658, essv6722812, essv6730430, essv6869347, essv6774210, essv6968854, essv6791343, essv6923974, essv6676044, essv6956183, essv6739537, essv6918272, essv6767156, essv6798356, essv6903291, essv6836992, essv6821994, essv6829748, essv6893064, essv6675065
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesAFP
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)esv2727825
Frequency
Sample Size96
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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