A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4007397



Internal ID11407790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085117..1085250hg38UCSC Ensembl
chr12:1194283..1194416hg19UCSC Ensembl
chr12:1064544..1064677hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38134
hg19134
hg18134
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1387135
Supporting Variants
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4007397
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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