A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734229



Internal ID9968556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32916268..33093711hg38UCSC Ensembl
Outerchr7:32955880..33133323hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38177444
hg19177444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684200, essv6694441, essv6872948, essv6794899, essv6719649, essv6841467, essv6767726, essv6923291, essv6723474, essv6855578, essv6765163, essv6875916, essv6927025, essv6715762, essv6869948, essv6808601, essv6861136, essv6930697, essv6811483, essv6845146, essv6727344, essv6935006, essv6778438, essv6890391, essv6849480, essv6694442, essv6939271, essv6698068, essv6893730, essv6802740, essv6805628, essv6907801, essv6671464, essv6786650, essv6943701, essv6887183, essv6774799, essv6855577, essv6833996, essv6712064, essv6952152
SamplesSSM071, SSM075, SSM045, SSM046, SSM064, SSM087, SSM038, SSM097, SSM073, SSM074, SSM042, SSM088, SSM023, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM096, SSM019, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM085, SSM082, SSM020, SSM037, SSM076, SSM022, SSM091, SSM025, SSM034, SSM043, SSM098, SSM063
Known GenesFKBP9, NT5C3A, RP9P
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)esv2734229
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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