A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734921



Internal ID9969251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034821..101040570hg38UCSC Ensembl
Outerchr7:100678102..100683851hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1108e201
Supporting Variantsessv6805700, essv6771127, essv6975039, essv6865982, essv6890587, essv6684280, essv6790852, essv6904020, essv6830480, essv6857943, essv6845215, essv6890486, essv6805701, essv6893833, essv6899954, essv6790853, essv6762824, essv6790851, essv6943802, essv6923381, essv6680705, essv6731076, essv6841546, essv6902474, essv6757608, essv6841547, essv6865984, essv6899956, essv6865983, essv6963951, essv6727447, essv6939356, essv6698128, essv6849651, essv6837751, essv6927103, essv6878855, essv6902463, essv6799207, essv6957553, essv6746163, essv6943804, essv6841548, essv6964249, essv6963962, essv6943803
SamplesSSM100, SSM059, SSM083, SSM027, SSM046, SSM011, SSM065, SSM038, SSM097, SSM013, SSM093, SSM074, SSM002, SSM023, SSM084, SSM018, SSM062, SSM026, SSM089, SSM019, SSM001, SSM086, SSM033, SSM085, SSM081, SSM072, SSM007, SSM022, SSM055, SSM070, SSM034, SSM004, SSM098, SSM012
Known GenesMUC17
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)esv2734921
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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