A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727375



Internal ID10311011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33034603..33034952hg38UCSC Ensembl
Outerchr4:33036225..33036574hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942713, essv6805014, essv6864906, essv6973790, essv6745506, essv6675958, essv6762303, essv6910814, essv6956296, essv6956082, essv6850598, essv6742703, essv6821913, essv6767107, essv6886552, essv6854408, essv6872307, essv6807991, essv6789951, essv6922556, essv6697542
SamplesSSM075, SSM011, SSM064, SSM079, SSM087, SSM038, SSM074, SSM023, SSM018, SSM029, SSM096, SSM062, SSM026, SSM089, SSM032, SSM015, SSM053, SSM091, SSM055, SSM070, SSM004
Known Genes
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)esv2727375
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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