A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727935



Internal ID9962247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87110917..87111421hg38UCSC Ensembl
Outerchr4:88032069..88032573hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748392, essv6860238, essv6918286, essv6922629, essv6756231, essv6906999, essv6848374, essv6817595, essv6718948, essv6886629, essv6840813, essv6739552, essv6794200, essv6829760, essv6704590, essv6742765, essv6878263, essv6736613
SamplesSSM053, SSM086, SSM084, SSM040, SSM078, SSM088, SSM071, SSM050, SSM093, SSM056, SSM017, SSM096, SSM052, SSM044, SSM014, SSM008, SSM018, SSM081
Known GenesAFF1
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)esv2727935
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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