A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303901



Internal ID15150849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881318..127881319hg38UCSC Ensembl
Innerchr2:127881301..127881336hg38UCSC Ensembl
Outerchr2:127881300..127881337hg38UCSC Ensembl
chr2:128638892..128638893hg19UCSC Ensembl
Innerchr2:128638875..128638910hg19UCSC Ensembl
Outerchr2:128638874..128638911hg19UCSC Ensembl
chr2:128355362..128355363hg18UCSC Ensembl
Innerchr2:128355380..128355345hg18UCSC Ensembl
Outerchr2:128355344..128355381hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7827180, essv7789320, essv7807825, essv7813770, essv7803675, essv7775472, essv7810683, essv7778436, essv7774327, essv7781138, essv7820775, essv7786667, essv7802201, essv7808453, essv7830309, essv7828973, essv7786042, essv7824366, essv7794701, essv7830682, essv7821043, essv7795548, essv7797674, essv7798278, essv7806457, essv7790241, essv7801753, essv7835722, essv7785510, essv7774893, essv7816902, essv7770584, essv7822145, essv7819889, essv7800574, essv7818844
SamplesNA18592, NA11920, NA18603, NA12045, NA12751, NA12004, NA18959, NA18526, NA12750, NA19005, NA18944, NA18558, NA18942, NA11992, NA07347, NA18964, NA12761, NA12044, NA12815, NA18973, NA18605, NA12489, NA12878, NA18572, NA18537, NA11919, NA12892, NA18532, NA18555, NA18945, NA18564, NA07051, NA12763, NA12749, NA18562, NA18577
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303901
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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