A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615218



Internal ID6655417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139850243..139861888hg38UCSC Ensembl
Innerchr7:139850264..139861868hg38UCSC Ensembl
Outerchr7:139850223..139861909hg38UCSC Ensembl
chr7:139550042..139561687hg19UCSC Ensembl
Innerchr7:139550063..139561667hg19UCSC Ensembl
Outerchr7:139550022..139561708hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3811646
hg1911646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12982077
SamplesHG03753
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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