A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728033



Internal ID10311669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99101895..99102222hg38UCSC Ensembl
Outerchr4:100023046..100023373hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817622, essv6907017, essv6848394, essv6726700, essv6956232, essv6822020, essv6865040, essv6889779, essv6697607, essv6930007, essv6860255, essv6973944, essv6854534, essv6670374, essv6708017, essv6851664, essv6790062, essv6676075, essv6903320, essv6962939, essv6700553, essv6825929
SamplesSSM027, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM088, SSM041, SSM029, SSM026, SSM089, SSM032, SSM031, SSM014, SSM086, SSM020, SSM078, SSM080, SSM070
Known GenesLOC100507053
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)esv2728033
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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