A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734236



Internal ID9968563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33671987..33672929hg38UCSC Ensembl
Outerchr7:33711599..33712541hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923294, essv6794903, essv6805631, essv6872949, essv6833999, essv6849483, essv6948054, essv6687440, essv6855581, essv6957421, essv6915261, essv6782457, essv6671469, essv6797599, essv6814542, essv6786653, essv6903937, essv6845147, essv6943703, essv6919099, essv6762931, essv6911578, essv6963328, essv6730442, essv6930698, essv6790755, essv6930684, essv6690693, essv6694446, essv6719650, essv6975213, essv6889899, essv6771062, essv6822653, essv6715764
SamplesSSM036, SSM008, SSM071, SSM024, SSM079, SSM065, SSM087, SSM013, SSM009, SSM074, SSM023, SSM018, SSM069, SSM029, SSM026, SSM017, SSM035, SSM003, SSM031, SSM044, SSM086, SSM085, SSM068, SSM082, SSM020, SSM007, SSM015, SSM016, SSM037, SSM077, SSM091, SSM070, SSM004, SSM043, SSM012
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)esv2734236
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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