A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728788



Internal ID9963103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177414847..177415010hg38UCSC Ensembl
Outerchr4:178336001..178336164hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907124, essv6956378, essv6848544, essv6686937, essv6963086, essv6670539, essv6974108, essv6865157, essv6817749, essv6860371, essv6854666
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM078
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)esv2728788
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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