A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728899



Internal ID10312535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184858232..184858750hg38UCSC Ensembl
Outerchr4:185779386..185779904hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715171, essv6722916, essv6914779, essv6854686, essv6942953, essv6770445, essv6790161, essv6957851, essv6893161, essv6777830, essv6934309, essv6786041, essv6951535, essv6956401, essv6947461, essv6963108, essv6667367, essv6910970, essv6670566, essv6968976, essv6686949, essv6726790, essv6840903, essv6974135, essv6837095
SamplesSSM083, SSM027, SSM024, SSM045, SSM046, SSM065, SSM087, SSM023, SSM028, SSM084, SSM021, SSM069, SSM029, SSM026, SSM035, SSM031, SSM067, SSM015, SSM016, SSM070, SSM025, SSM004, SSM043, SSM098, SSM030
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)esv2728899
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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