A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735248



Internal ID10318884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141731427..141732053hg38UCSC Ensembl
Outerchr7:141431227..141431853hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790886, essv6723585, essv6727479, essv6964195, essv6771167, essv6975434, essv6939389, essv6957615, essv6969778
SamplesSSM045, SSM046, SSM065, SSM028, SSM029, SSM026, SSM022, SSM070, SSM004
Known GenesWEE2-AS1
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)esv2735248
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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