A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722127



Internal ID9956426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4224358..4224900hg38UCSC Ensembl
Outerchr20:4205005..4205547hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950015, essv6852587, essv6913511, essv6941289, essv6967231, essv6937128, essv6792788, essv6744609, essv6733026, essv6828569, essv6960769, essv6713791, essv6895429
SamplesSSM027, SSM024, SSM042, SSM021, SSM047, SSM026, SSM086, SSM015, SSM053, SSM080, SSM022, SSM070, SSM098
Known GenesADRA1D
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)esv2722127
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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