A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734159



Internal ID10317795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26208541..26212091hg38UCSC Ensembl
Outerchr7:26248161..26251711hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383551
hg193551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715751, essv6919090, essv6811472, essv6730398, essv6762853, essv6690684, essv6884401, essv6790747, essv6762770, essv6887176, essv6901885, essv6680465, essv6845138, essv6872946, essv6802733, essv6861129, essv6923283, essv6875910, essv6855562, essv6881587, essv6705087, essv6963262, essv6694433, essv6797554, essv6911571, essv6943694, essv6731102, essv6878769, essv6833989, essv6705238, essv6680607, essv6930640, essv6903926, essv6948039, essv6930692, essv6712053, essv6723469, essv6927016, essv6794889, essv6952140, essv6939261
SamplesSSM036, SSM008, SSM071, SSM024, SSM045, SSM087, SSM013, SSM009, SSM073, SSM093, SSM042, SSM088, SSM002, SSM023, SSM092, SSM047, SSM018, SSM096, SSM062, SSM017, SSM019, SSM094, SSM003, SSM033, SSM006, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM005, SSM037, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM043
Known GenesCBX3
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)esv2734159
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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