A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567674



Internal ID7039056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120175847..120179977hg38UCSC Ensembl
chr1:145092948..145097081hg19UCSC Ensembl
chr1:143804305..143808438hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384131
hg194134
hg184134
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995844
Supporting Variants
SamplesHuRef
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567674
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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