A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734913



Internal ID9969243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034059..101040568hg38UCSC Ensembl
Outerchr7:100677340..100683849hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg386510
hg196510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1108e201
Supporting Variantsessv6698127, essv6911642, essv6715838, essv6762823, essv6805700, essv6771127, essv6975039, essv6865982, essv6890587, essv6684280, essv6790852, essv6904020, essv6830480, essv6857943, essv6845215, essv6890486, essv6805701, essv6935079, essv6786746, essv6705710, essv6830479, essv6855713, essv6893833, essv6899954, essv6715837, essv6786747, essv6790853, essv6849650, essv6762824, essv6790851, essv6943802, essv6923381, essv6680705, essv6939355, essv6890485, essv6731076, essv6841546, essv6902474, essv6757608, essv6948139, essv6841547, essv6865984, essv6899956, essv6794995, essv6865983, essv6963951, essv6727447, essv6680704, essv6939356, essv6698128, essv6849651, essv6957552, essv6837751, essv6927103, essv6828309, essv6964248, essv6878855, essv6705331, essv6902463, essv6799207, essv6957553, essv6915339, essv6746163, essv6715836, essv6943804, essv6841548, essv6964249, essv6963962, essv6943803, essv6930798, essv6915341
SamplesSSM100, SSM059, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM013, SSM093, SSM074, SSM002, SSM023, SSM084, SSM021, SSM018, SSM069, SSM062, SSM026, SSM089, SSM019, SSM001, SSM086, SSM033, SSM006, SSM085, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM022, SSM010, SSM055, SSM070, SSM034, SSM004, SSM043, 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)esv2734913
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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