A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734471



Internal ID9968798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56767223..56767434hg38UCSC Ensembl
Outerchr7:56834916..56835127hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782470, essv6927046, essv6849532, essv6923320, essv6698085, essv6865890, essv6893759, essv6957458, essv6818528, essv6869972, essv6899900, essv6786679, essv6907832, essv6802761, essv6799129, essv6671517, essv6855625, essv6930873, essv6872963, essv6680654, essv6837688, essv6719676, essv6684228, essv6857120, essv6687463, essv6884424, essv6975260, essv6969658, essv6727368, essv6861177
SamplesSSM100, SSM083, SSM046, SSM011, SSM087, SSM038, SSM073, SSM088, SSM028, SSM090, SSM018, SSM069, SSM029, SSM026, SSM089, SSM019, SSM035, SSM003, SSM031, SSM044, SSM014, SSM086, SSM068, SSM072, SSM078, SSM005, SSM091, SSM095, SSM034, SSM098
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)esv2734471
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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