A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985415



Internal ID2987231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141376743..141384212hg38UCSC Ensembl
Innerchr7:141376798..141384157hg38UCSC Ensembl
Outerchr7:141376688..141384267hg38UCSC Ensembl
chr7:141076543..141084012hg19UCSC Ensembl
Innerchr7:141076598..141083957hg19UCSC Ensembl
Outerchr7:141076488..141084067hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387470
hg197470
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615252
Supporting Variants
SamplesHG01280
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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