A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727636



Internal ID9961947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55445081..55445272hg38UCSC Ensembl
Outerchr4:56311248..56311439hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv841e201
Supporting Variantsessv6817539, essv6707960, essv6683529, essv6860179, essv6889728, essv6700491, essv6848304, essv6899268, essv6962868, essv6864972, essv6808017, essv6805036, essv6851087, essv6906949
SamplesSSM100, SSM027, SSM075, SSM011, SSM097, SSM039, SSM074, SSM088, SSM041, SSM089, SSM014, SSM086, SSM078, SSM034
Known GenesCLOCK
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)esv2727636
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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